Page last updated: 2024-10-18

dihydroxyphenylalanine and Ehlers-Danlos Syndrome

dihydroxyphenylalanine has been researched along with Ehlers-Danlos Syndrome in 1 studies

Dihydroxyphenylalanine: A beta-hydroxylated derivative of phenylalanine. The D-form of dihydroxyphenylalanine has less physiologic activity than the L-form and is commonly used experimentally to determine whether the pharmacological effects of LEVODOPA are stereospecific.
dopa : A hydroxyphenylalanine carrying hydroxy substituents at positions 3 and 4 of the benzene ring.

Ehlers-Danlos Syndrome: A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.

Research Excerpts

Excerpt	Relevance	Reference
"We have found mutations in the Menkes disease gene (MNK) which impair, but do not abolish, correct mRNA splicing in patients with less severe clinical phenotypes."	1.29	Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. ( Gahl, WA; Gallo, LK; Goldstein, DS; Holmes, CS; Kaler, SG; Mark, Y; Percy, AK; Proud, VK; Segal, NA, 1994)

Research

Studies (1)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	1 (100.00)	18.2507
2000's	0 (0.00)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Kaler, SG	1
Gallo, LK	1
Proud, VK	1
Percy, AK	1
Mark, Y	1
Segal, NA	1
Goldstein, DS	1
Holmes, CS	1
Gahl, WA	1

Clinical Trials (1)

Trial Overview

Trial			Phase	Enrollment	Study Type	Start Date	Status
Early Copper Histidine Therapy in Menkes Disease[NCT00001262]			Phase 1/Phase 2	60 participants (Actual)	Interventional	1990-06-30	Completed
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Trial Outcomes

Fine Motor Adaptive Development at 36 Mos of Age or at Death (Mos)

This was measured based on the Denver Developmental Screening Test (DDST) I or II for age-appropriate fine motor development in apparently normal healthy subjects at specific ages (in months). The DDST employs a grid to assess expected developmental milestones in relation to chronologic age. (NCT00001262)
Timeframe: 36 months or death

Intervention	Other - Months (Mean)
Early	16.200
Late	2.409
Mild	17.667

Gross Motor Development at 36 Mos of Age or at Death (Mos)

This was measured based on the Denver Developmental Screening Test (DDST) I or II for age-appropriate gross motor development in apparently normal healthy subjects at specific ages (in months). The DDST employs a grid to assess expected developmental milestones in relation to chronologic age. (NCT00001262)
Timeframe: 36 months or death

Intervention	Other - months (Mean)
Early	13.743
Late	2.455
Mild	15.667

Language Development at 36 Mos of Age or at Death (Mos)

This was measured based on the Denver Developmental Screening Test (DDST) I or II for age-appropriate language development in apparently normal healthy subjects at specific ages (in months). The DDST employs a grid to assess expected developmental milestones in relation to chronologic age. (NCT00001262)
Timeframe: 36 months or death

Intervention	Other - Months (Mean)
Early	15.800
Late	3.227
Mild	21.000

Personal-Social Development at 36 Mos of Age or at Death (Mos)

This was measured based on the Denver Developmental Screening Test (DDST) I or II for age-appropriate personal-social development in apparently normal healthy subjects at specific ages (in months). The DDST employs a grid to assess expected developmental milestones in relation to chronologic age. (NCT00001262)
Timeframe: 36 months or death

Intervention	Other - Months (Mean)
Early	17.657
Late	3.364
Mild	17.667

Somatic Growth Percentiles at 3 Years of Age (or at Age of Death) - Head Circumference Percentile

(NCT00001262)
Timeframe: 36 months or death

Intervention	Other - Percentile (Mean)
Early	33.286
Late	11.136
Mild	18.333

Somatic Growth Percentiles at 3 Years of Age (or at Age of Death) - Length Percentile

(NCT00001262)
Timeframe: 36 months or death

Intervention	Other - Percentile (Mean)
Early	8.286
Late	15.455
Mild	28.333

Somatic Growth Percentiles at 3 Years of Age (or at Age of Death) - Weight Percentile

(NCT00001262)
Timeframe: 36 months or death

Intervention	Other - Percentile (Mean)
Early	12.086
Late	11.273
Mild	5.000

Other Studies

1 other study available for dihydroxyphenylalanine and Ehlers-Danlos Syndrome

Article	Year
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nature genetics, 1994, Volume: 8, Issue:2 Topics: Adenosine Triphosphatases; Adolescent; Animals; Base Sequence; Carrier Proteins; Cation Transport Pr	1994